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导水管狭窄所致常染色体隐性遗传性脑积水:另一家庭病例报告及对遗传咨询的意义

Autosomal recessive hydrocephalus due to aqueduct stenosis: report of a further family and implications for genetic counselling.

作者信息

Lapunzina P, Delicado A, de Torres M L, Mor M A, Pérez-Pacheco R F, Lópes Pajares I

机构信息

Department of Genetics, Hospital La Paz, Madrid, Spain.

出版信息

J Matern Fetal Neonatal Med. 2002 Jul;12(1):64-6. doi: 10.1080/jmf.12.1.64.66.

Abstract

We report on two abortuses with hydrocephalus due to congenital stenosis of the aqueduct of Silvius. The occurrence of this disorder in two siblings (a male and a female) with normal parents supports the autosomal recessive pattern of inheritance. Such a mechanism of inheritance should be taken into account when counselling families with congenital hydrocephaly due to aqueduct stenosis.

摘要

我们报告了两例因先天性中脑导水管狭窄导致脑积水的流产胎儿。这种疾病在父母正常的两名同胞(一男一女)中出现,支持常染色体隐性遗传模式。在为因导水管狭窄导致先天性脑积水的家庭提供咨询时,应考虑到这种遗传机制。

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